[Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report].

CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.

The Role Of Minimally Invasive Osteotomies In Cavovarus Foot Reconstruction: Detailed Technique And Evidence For Procedures.

Percutaneous correction of cavus foot deformity can be achieved with satisfactory correction of foot anatomy and biomechanics. Surgical management of cavovarus foot reconstruction is an individualized combination of surgical procedures designed to correct deformity. Minimally invasive procedures using high-torque low-speed burr can facilitate large deformity correction without extensive soft tissue stripping. This article presents the operative technique for percutaneous cavus foot correction including a lateralizing calcaneal osteotomy and proximal first ray osteotomy. However, methodologically robust evidence to support this procedure is lacking at present, and further research, particularly, focusing on long-term clinical outcomes and follow-up is required.

Toes Deformities in Cavovarus: How to Approach Them.

Sagittal lesser toe deformities (LTD) are the most common in cavus foot. They are mainly the result of muscular imbalance between intrinsic and extrinsic muscles. Surgery is the second-line treatment if medical treatment fails. The aim of the present study was to provide an update on classification and surgical management of LTD in cavus foot including percutaneous procedures with a special focus on sagittal deformities. Joint sparing procedures are preferred for reducible LTD, whereas lesser toe fusions are used for rigid one in association with tendon transfer or percutaneous procedures depending of surgeon's experience and patient's clinical examination.

Assessing the coronal plane deformity in Charcot Marie Tooth Cavovarus feet using automated 3D measurements.

BACKGROUND: This study assesses the coronal-plane deformities in cavovarus feet secondary to Charcot-Marie-Tooth disease (CMT) using Weightbearing-CT (WBCT) and semi-automated 3D-segmentation software. METHODS: WBCTs from 30 CMT-cavovarus feet were matched to 30 controls and analysed using semi-automatic 3D-segmentation (Bonelogic, DISIOR). The software used automated cross-section sampling with subsequent straight-line representation of weighted centre points to calculate 3D axes of bones in the hindfoot, midfoot and forefoot. Coronal relationships of these axes were analysed. Supination/pronation of the bones in relation to the ground and within each joint were measured and reported. RESULTS: The most significant deformity in CMT-cavovarus feet occurred at the talonavicular joint (TNJ) with 23 degrees more supination than normal feet (6.4 ± 14.5 versus 29.4 ± 7.0 degrees, p < 0.001). This was countered by relative pronation at the naviculo-cuneiform joints (NCJ) of 7.0 degrees (-36.0 ± 6.6 versus -43.0 ± 5.3 degrees, p < 0.001). Combined hindfoot varus and TNJ supination resulted in an additive supination effect not compensated by NCJ pronation. The cuneiforms in CMT-cavovarus feet were therefore supinated by 19.8 degrees to the ground relative to normal feet (36.0 ± 12.1 versus 16.2 ± 6.8 degrees, p < 0.001). The forefoot-arch and 1st metatarsal-ground angles demonstrated similar supination to the cuneiforms suggesting no further significant rotation occurred distally. CONCLUSION: Our results demonstrate coronal plane deformity occurs at multiple levels in CMT-cavovarus feet. Majority of the supination arises at the TNJ, and this is partially countered by pronation distally, mainly at the NCJ. An understanding of the location of coronal deformities may help when planning surgical correction. LEVEL OF EVIDENCE: Level III, retrospective comparative study.

Influencia del pie como receptor en la postura corporal, la simetría facial y cráneo-mandibular / The influence of foot as a receptor on body posture and on facial, mandibular and cranial symmetries

Introducción: Un apoyo plantar incorrecto puede considerarse un factor etiológico de asimetrías faciales y cráneo-mandibulares pues modifica, de forma instantánea, la relación entre el maxilar y la mandíbula. Por tanto, resulta vital identificar la etiología de estas asimetrías para establecer diagnósticos y tratamientos certeros. Objetivo: Determinar la influencia del apoyo plantar en la postura corporal, la simetría facial y cráneo-mandibular en adolescentes. Métodos: Se realizó un estudio descriptivo y transversal de enero a septiembre de 2019 con 180 adolescentes que asistieron al servicio de Ortodoncia de la Clínica Docente de Especialidades «Victoria de Santa Clara», los cuales cumplían con criterios de selección de la investigación. Se analizaron variables faciales, posturales y cefalométricas. Se determinó: la simetría facial mediante el análisis de líneas faciales, el apoyo plantar al calcular el índice cavitario, la postura corporal, según la prueba de Di Rocca, y la simetría mandibular con el método modificado de Kurt y Uysal. Se siguieron las normas éticas y fueron aplicadas la prueba de Fisher, la de McNemar, y la técnica de conglomerado. Resultados: Predominaron los adolescentes con apoyo plantar asimétrico y los pies varo. Del total de casos con asimetría facial, 72,53 % presentó apoyo plantar asimétrico, y 39,44 % planos biilíaco y biclavicular desequilibrados y divergentes. La asimetría mandibular se observó en el 56,11%, la mayoría con apoyo plantar asimétrico. Conclusiones: Se pudo constatar la influencia del apoyo plantar en la postura corporal, la simetría facial y cráneo-mandibular, pues se observó un alto grado de relación entre las variables estudiadas.

Introduction: an incorrect plantar support can be considered an etiological factor of facial, mandibular and cranial asymmetries since it instantly modifies the relationship between the maxilla and mandible. Therefore, it is vital to identify the etiology of these asymmetries to establish accurate diagnoses and treatments. Objective: to determine the influence of plantar support on body posture and on facial, mandibular and cranial symmetries in adolescents. Methods: a descriptive and cross-sectional study was carried out from January to September 2019 with 180 adolescents who were seen in the Orthodontics service at "Victoria de Santa Clara" Specialty Teaching Dental Clinic, who met the research selection criteria. Facial, postural and cephalometric variables were analyzed. Facial symmetry was determined through the analysis of facial lines, plantar support by means of cavity index, body posture according to the Di Rocca test, and mandibular symmetry with the modified method of Kurt and Uysal. Ethical standards were followed and Fisher's and McNemar's tests as well as clustering technique were applied. Results: adolescents with asymmetric plantar support and varus feet predominated. The 72.53% had asymmetric plantar support from the total cases with facial asymmetry, and 39.44% had unbalanced and divergent biiliac and biclavicular planes. Mandibular asymmetry was observed in 56.11%, mostly with asymmetric plantar support. Conclusions: the influence of plantar support on body posture and on facial, mandibular and cranial symmetries was posible to verify since a high degree of relationship was observed among the variables studied.

Severe equinus cavo-varus correction through triplanar tarsectomy and posterior tibial tendon transfer based on 3D-printed biomodel.

Surgery for severe equine cavo-varus is complex and must be individualized. The interindividual phenotypic variability demands a personalized planning of each foot to be operated. The study's primary goal was to evaluate the function and satisfaction of a series of patients with severe equinus cavo-varus deformity who underwent a triplanar tarsectomy and transposition of the posterior tibial tendon in a single stage surgery after a patient specific 3D biomodel planning. A series of 12 feet (5 patients bilaterally) operated with this technique was analyzed. The cohort comprised 2 females (28.5 %) and 5 males (71.4 %). The median follow-up time was 38.5 months (interquartile range: 24.75-48.75). The Foot and Ankle Disability Index pre (median 32.85; interquartile range: 20-46) and postsurgery (median 72; interquartile range: 56-75.5) were collected and statistically significant differences were observed (p < 0.002). Furthermore, the main variable evaluated was obtaining a plantigrade stable foot. This was clinically evaluated and was achieved in all patients except 1 patient who presented a residual equinus of 5º. This study shows that triplanar tarsectomy and posterior tibial tendon transfer in a single surgical procedure after patient-specific 3D biomodel planning allows for improved function in patients with severe equinus cavus varus foot deformity.

Double and Triple Tarsal Fusions in the Complex Cavovarus Foot.

The cavovarus (cavus) foot is one of the most perplexing and challenging of all foot deformities and may prove to be one of the most difficult conditions to treat. This deformity is characterized by increased plantar flexion of the forefoot and midfoot in relation to the hindfoot resulting in high foot arch. Because cavus foot rarely occurs in an isolated form, the term "cavus foot" rather describes a part of a complex multiplanar foot deformity. Because the underlying disease is mostly neurogenic characterized by muscle imbalance in almost every case a combined bony and soft tissue surgery is inevitable.

Joint preserving procedures for painful plantar callosities in patients with flexible cavovarus foot.

BACKGROUND: The outcome of a constant joint preserving procedure for painful plantar callosities with cavovarus foot remains unclear. METHODS: Eleven patients (11 feet) who underwent lateral displacement calcaneal osteotomy (LDCO), dorsiflexion first metatarsal osteotomy (DFMO), and plantar fasciotomy (PF), simultaneously were included. The presence of painful callosities, heel alignment of standing (HA), and the Japanese Society for Surgery of the Foot ankle/hindfoot (JSSF) score were evaluated. Radiographically, the talonavicular coverage angle (TNCA), lateral talo-first metatarsal angle (LTMA), calcaneal pitch angle (CPA), and heel alignment angle (HAA) were measured. RESULTS: Postoperatively, painful plantar callosities disappeared in 10 patients and remained in one patient. The postoperative HA and JSSF score significantly improved. The postoperative TNCA, LTMA, CPA, and HAA significantly improved. CONCLUSIONS: In patients with flexible cavovarus foot, LDCO, DFMO, and PF yielded good outcomes at mid-term follow-up with preservation of the foot and ankle joints.

Foot Deformity in Patients With Ankylosing Spondylitis: Is It Associated With Functionality and Disease Activity?

Foot involvement affects mobility and functionality in patients with ankylosing spondylitis but it remains unknown if foot deformities in ankylosing spondylitis patients affect functionality, disease activity, and quality of life. The aim of this study was to evaluate in detail the presence of a relationship between radiologically detected foot deformities in ankylosing spondylitis patients and both clinical and electrophysiological findings. The cross-sectional study included 110 patients with ankylosing spondylitis who were diagnosed according to the Assessment in Spondyloarthritis International Society criteria and were followed in our hospital. Demographic and clinical data of all patients were recorded. Bilateral lateral foot x-rays and electrophysiology examinations were evaluated in all subjects. The arch in the dominant foot of the patients was classified in 3 groups as pes cavus, pes planus, or normal. The clinical outcomes, physical examination and electrophysiological findings were compared between the groups, and correlations were examined of the foot deformities with these parameters. Foot deformities were determined at a high rate (74.5%). These deformities affected foot pain, disability and quality of life. Pes cavus deformity was found to be associated with hip pain and enthesopathy. In the electrophysiological studies, the presence of pes planus was found to be associated with the findings of the tibial and sural nerve conduction studies, and the presence of pes cavus with the findings of the peroneal nerve conduction study. In conclusion, foot deformities may have an effect on the quality of life and functionality in ankylosing spondylitis patients.

Forefoot Adduction, Hindfoot Varus or Pes Cavus: Risk Factors for Fifth Metatarsal Fractures and Jones Fractures? A Systematic Review and Meta-Analysis.

The origin of fractures of the fifth metatarsus and Jones fracture is not clear. The goal of this study was to investigate the evidence of anatomical deformities such as metatarsus adductus, hindfoot varus, or pes cavus as risk factors for this pathology. A literature search of records related to the review question was performed screening PubMed/Medline, Embase and Cochrane library databases (last update: May 2020) according to PRISMA guidelines. A meta-analysis was performed using the mean difference of the assessed angles (in patients with the fractures vs controls) as outcome measure to summarize literature findings about metatarsus adductus angle (MAA) indicating forefoot adduction, calcaneal pitch angle (CP) indicating hindfoot cavus and varus deformity and Talo-1st metatarsus angle/Meary's angle (T1stMA) for varus alignment. Eight studies were included in the qualitative analysis (296 patients), 5 in the quantitative synthesis (132 patients). The pooled mean difference of MAA between fracture versus control group on a per patient-based analysis was 4.62 (95% CI 1.31-7.92). Statistical heterogeneity among studies was detected (I-Square: 76.1%), likely due to different patient groups and low number of studies. The pooled mean differences of CP and T1stMA among fracture group versus controls did not show statistical significance. Despite limited literature data, metatarsus adductus deformity seems to be correlated with higher risk of proximal metatarsal fractures and Jones fracture. A significant relationship between hindfoot varus or pes cavus and these fractures was not demonstrated. Further studies and trials are warranted to shed more lights on this topic.

Technique tip: 3D printing surgical guide for pes cavus midfoot osteotomy.

BACKGROUND: Pes cavus can be defined as an abnormal elevation of the longitudinal arches, which is often secondary to a muscle imbalance. This deformity affects the foot's three dimensions (3D) and our osteotomies are usually planned on a lateral (two-dimension) X-ray. Are we really considering all the spatial components of the deformity? The aim of this study is to present a technique tip to identify the apical plane of the pes cavus deformity and perform a midfoot dorsal-based wedge resection osteotomy by using customized 3D printed surgical guides. METHODS: Three patients underwent the presented technique, all for the indication of symptomatic neuromuscular pes cavus with both anterior and posterior deformity. RESULTS: 3D-printed patient-specific guides help the surgeon to minimize human error, improving intraoperative accuracy, while reducing surgical time and intraoperative X-ray exposure. CONCLUSIONS: Closing wedge midfoot osteotomy to correct anterior pes cavus may be an interesting indication to use customized 3D printed surgical guides.

Imaging of the Pes Cavus Deformity.

Direct-type cavus foot deformities are most commonly encountered and are primarily sagittal plane deformities. Direct deformities should be delineated from rarer triplane pes cavovarus deformities. The lateral weight-bearing radiograph is the cornerstone of imaging evaluation of direct pes cavus foot deformity. The apex of Meary talo-first metatarsal angle on the lateral radiograph represents the pinnacle of the cavus deformity and assists in subclassification of the deformity. With routine application, ancillary radiographic imaging techniques, such as the modified Saltzman view or the modified Coleman block test, can give valuable insight into deformity assessment and surgical planning.

Pes Cavus Deformity: Anatomic, Functional Considerations, and Surgical Implications.

Pes cavus is a complicated, multiplanar deformity that requires a thorough understanding in order to provide the appropriate level of care. The foot and ankle surgeon should perform a comprehensive examination, including a neurologic evaluation, in the workup of this patient population. Understanding the cause of the patient's deformity is a critical step in predicting the disease course as well as the most acceptable form of treatment. The surgical correlation with the patient's pathologic anatomy requires an in-depth clinical evaluation, in addition to the radiographic findings, as the radiographic findings do not necessarily correlate with the patient's discomfort.

Neurologic Conditions Associated with Cavus Foot Deformity.

The cavus foot deformity is an often less understood deformity within the spectrum of foot and ankle conditions. The hallmark concern is the possibility of an underlying neurologic or neuromuscular disorder. Although a proportion of these deformities are idiopathic, a significant majority do correlate with an underlying disorder. The appropriate evaluation of this deformity, in coordination within the multidisciplinary scope of health care, allows for a timely diagnosis and understanding of the patient's condition. We provide an abbreviated survey of possible underlying etiologies for the patient with the cavus foot deformity as a reference to the foot and ankle surgeon.

Hallux and Lesser Digits Deformities Associated with Cavus Foot.

It is important to identify the level of the deformity or deformities. It is important to get the limb as close to anatomic alignment as possible. Many levels and multiple procedures may be involved with this reconstruction.

The Subtle Cavovarus Foot Deformity: The Nonneurologic Form of Cavus Foot Deformity.

Conditions of ankle instability, peroneal tendon tears, and stress fractures of the lateral metatarsals are commonly encountered in a clinical foot and ankle practice. Evaluation of the supporting foot structure is critical to prevent failure of index procedures. The prominence of the subtle cavus foot is now a recognized entity and must be properly diagnosed and addressed surgically.

Use of Calcaneal Osteotomies in the Correction of Inframalleolar Cavovarus Deformity.

Cavovarus deformity is a complicated condition most commonly resulting from neurologic, posttraumatic, or iatrogenic pathologic conditions. Careful evaluation of the cavovarus patient is necessary in determining appropriate treatment course. Weight-bearing radiographs are necessary, and advances in computed tomographic technology can be beneficial in identifying level of involvement. In the case of operative treatment of inframalleolar deformity, assessment of the subtalar joint position and relation of calcaneocuboid joint can be of assistance. Multiple osteotomies have been described providing uniplanar, biplanar, and triplanar correction and in the appropriate setting can prove beneficial to the surgeon in treating hind-foot cavovarus deformity.

Management of Midfoot Cavus.

There is a deficiency in publications on the topic of midfoot cavus. The limited research available does not have a standard definition for the diagnosis of this deformity and lacks a reliable algorithm for its surgical management. The authors performed an extensive review of the literature that found a majority of patients are satisfied with the Cole osteotomy and the dorsiflexory first metatarsal osteotomy for treatment of this condition. High patient satisfaction has been observed with lateralizing calcaneal osteotomies in the setting of midfoot cavus with a secondary rigid rearfoot deformity. Further research on this topic is encouraged.

Principles of Triple Arthrodesis and Limited Arthrodesis in the Cavus Foot.

Cavus foot is a complex podiatric deformity that requires precise and in-depth work-up through an objective, physical, and radiographic examination. The goal of surgical treatment is to eliminate pain while establishing a plantigrade foot structure. Triple arthrodesis has proven to be an effective surgical procedure for treatment of moderate to severe rearfoot deformity with or without the presence of rearfoot arthritic changes. The foot and ankle surgeon must always be aware that no two cavus deformity cases are alike, therefore one may require additional surgical procedures including soft tissue balancing, joint-sparing osteotomies, and/or supplementary arthrodesing procedures.